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Showing results (81-90 of 96) with videos related to

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American Journal of Human Genetics|February 2, 2022
Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticityAlina Kurolap, Florian Kreuder, Claudia Gonzaga-Jauregui, et al.
Science Advances|May 13, 2021
Pathogenic variants in <i>SMARCA5</i>, a chromatin remodeler, cause a range of syndromic neurodevelopmental featuresDong Li, Qin Wang, Naihua N Gong, et al.
Gastroenterology|December 31, 2022
Constitutional Microsatellite Instability, Genotype, and Phenotype Correlations in Constitutional Mismatch Repair DeficiencyRichard Gallon, Rachel Phelps, Christine Hayes, et al.
Journal of Molecular Neuroscience : MN|July 29, 2020
The National Autism Database of Israel: a Resource for Studying Autism Risk Factors, Biomarkers, Outcome Measures, and Treatment EfficacyIlan Dinstein, Ayelet Arazi, Hava M Golan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 18, 2019
Correction: The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basisKarin Weiss, Hayley P Lazar, Alina Kurolap, et al.
Clinical Genetics|October 28, 2020
Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1Zippora Brownstein, Suleyman Gulsuner, Tom Walsh, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 8, 2019
The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basisKarin Weiss, Hayley P Lazar, Alina Kurolap, et al.
JAMA Network Open|February 22, 2024
National Rapid Genome Sequencing in Neonatal Intensive CareDaphna Marom, Adi Mory, Sivan Reytan-Miron, et al.
American Journal of Human Genetics|May 30, 2024
MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignatureRemzi Karayol, Maria Carla Borroto, Sadegheh Haghshenas, et al.
Medrxiv : the Preprint Server for Health Sciences|November 3, 2022
Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19Daniela Matuozzo, Estelle Talouarn, Astrid Marchal, et al.
Pageof 10

Showing results (81-90 of 96) with videos related to

Sort By:
Pageof 10
American Journal of Human Genetics|February 2, 2022
Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticityAlina Kurolap, Florian Kreuder, Claudia Gonzaga-Jauregui, et al.
Science Advances|May 13, 2021
Pathogenic variants in <i>SMARCA5</i>, a chromatin remodeler, cause a range of syndromic neurodevelopmental featuresDong Li, Qin Wang, Naihua N Gong, et al.
Gastroenterology|December 31, 2022
Constitutional Microsatellite Instability, Genotype, and Phenotype Correlations in Constitutional Mismatch Repair DeficiencyRichard Gallon, Rachel Phelps, Christine Hayes, et al.
Journal of Molecular Neuroscience : MN|July 29, 2020
The National Autism Database of Israel: a Resource for Studying Autism Risk Factors, Biomarkers, Outcome Measures, and Treatment EfficacyIlan Dinstein, Ayelet Arazi, Hava M Golan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 18, 2019
Correction: The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basisKarin Weiss, Hayley P Lazar, Alina Kurolap, et al.
Clinical Genetics|October 28, 2020
Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1Zippora Brownstein, Suleyman Gulsuner, Tom Walsh, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 8, 2019
The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basisKarin Weiss, Hayley P Lazar, Alina Kurolap, et al.
JAMA Network Open|February 22, 2024
National Rapid Genome Sequencing in Neonatal Intensive CareDaphna Marom, Adi Mory, Sivan Reytan-Miron, et al.
American Journal of Human Genetics|May 30, 2024
MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignatureRemzi Karayol, Maria Carla Borroto, Sadegheh Haghshenas, et al.
Medrxiv : the Preprint Server for Health Sciences|November 3, 2022
Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19Daniela Matuozzo, Estelle Talouarn, Astrid Marchal, et al.
Pageof 10